ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826213158
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496018
ClinVar RCV Id:
RCV000586847
RCV001221284
RCV002506400
RCV002384285
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Thr393Pro
CA404085034
NM_001195799.2:c.1177A>C